Canonical Allele Identifier: CA355381370

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183853345C>G (hg19) ; chr3:g.184135557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135557C>G , CM000665.2:g.184135557C>G	GRCh38
NC_000003.11:g.183853345C>G , CM000665.1:g.183853345C>G	GRCh37
NC_000003.10:g.185336039C>G	NCBI36
NG_015826.1:g.5536C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432569.2:c.172C>G	ENSP00000414775.1:p.Pro58Ala
ENST00000465218.3:n.195C>G
ENST00000468748.7:n.155C>G
ENST00000471832.2:c.172C>G	ENSP00000497786.1:p.Pro58Ala
ENST00000491008.6:n.37C>G
ENST00000492226.2:n.169C>G
ENST00000647636.1:c.172C>G	ENSP00000497505.1:p.Pro58Ala
ENST00000647909.1:c.172C>G	ENSP00000498164.1:p.Pro58Ala
ENST00000648256.1:c.121C>G	ENSP00000497356.1:p.Pro41Ala
ENST00000648314.1:c.172C>G	ENSP00000496920.1:p.Pro58Ala
ENST00000648599.1:c.172C>G	ENSP00000497159.1:p.Pro58Ala
ENST00000648630.1:c.166C>G	ENSP00000497887.1:p.Pro56Ala
ENST00000648682.1:c.172C>G	ENSP00000498185.1:p.Pro58Ala
ENST00000648882.1:c.172C>G	ENSP00000497603.1:p.Pro58Ala
ENST00000648890.1:c.172C>G	ENSP00000497503.1:p.Pro58Ala
ENST00000648915.2:c.172C>G MANE Select	ENSP00000497160.1:p.Pro58Ala
ENST00000649688.1:c.172C>G	ENSP00000497097.1:p.Pro58Ala
ENST00000649814.1:n.221C>G
ENST00000650244.1:c.64C>G	ENSP00000497227.1:p.Pro22Ala
ENST00000650270.1:c.39C>G
ENST00000273783.7:c.172C>G	ENSP00000273783.3:p.Pro58Ala
ENST00000432569.1:c.172C>G	ENSP00000414775.1:p.Pro58Ala
ENST00000432982.5:c.158C>G
ENST00000444495.1:c.172C>G	ENSP00000409142.1:p.Pro58Ala
ENST00000481054.5:n.173C>G
ENST00000491144.5:n.520C>G
NM_003907.2:c.172C>G	NP_003898.2:p.Pro58Ala
XR_924208.1:n.1123C>G
NM_003907.3:c.172C>G MANE Select	NP_003898.2:p.Pro58Ala
XM_011513266.3:c.-730C>G	XP_011511568.1:n.-730C>G
XR_001740352.2:n.535C>G
XR_001740353.2:n.535C>G
XR_924208.2:n.535C>G